Genetic Epilepsy

Gene: ATP6AP2

Green List (high evidence)

Seizures are part of the phenotype of this disorder.

Created: 11 Oct 2022, 9:29 a.m. | Last Modified: 11 Oct 2022, 9:29 a.m.

Panel Version: 0.1739

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423

Green List (high evidence)

Established gene disease association

Korvatska, et al. (2015): Showed transcript of the exon4-deleted isoform was overproduced in patient cells with c.345C>T, the level of normal full size transcript was compromised. ATP6AP2Δe4 transcripts are naturally occurring splice isoforms in the human brain. Functional studies on ATP6AP2 knockdown showed perturbed autophagy and lysosomal clearance.

Created: 19 May 2022, 1:56 a.m. | Last Modified: 19 May 2022, 1:56 a.m.

Panel Version: 0.14530

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
?Parkinsonism with spasticity, X-linked MIM#300911; Congenital disorder of glycosylation, type IIr MIM#301045; Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423

Publications

• PMID: 23595882

Mode of pathogenicity
Other